Results 41 to 50 of about 5,072 (157)

The Patient, the Provider, and the TikTok Creator: Qualitative Analysis of the Content and Quality of Videos on Prenatal Genetic Screening

Journal of Midwifery &Women's Health, EarlyView.
Introduction Although providers may view the use of the noninvasive prenatal testing (NIPT) screen as an opportunity for patients to learn more about potential chromosomal variants of a fetus, research suggests that patients may view the genetic screening test primarily as an opportunity to learn about their fetus's sex chromosomes and may not ...
Erin P. Johnson, Naomi O. Riches, Stephanie Arceneaux, Emma Murdock, Caitlin Quade, Susanna R. Cohen, Robin E. Jensen   +6 more
wiley   +1 more source

Mutational analysis of androgen receptor gene in two families with androgen insensitivity

Indian Journal of Endocrinology and Metabolism, 2017
Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone.
Radha Ramadevi Akella
doaj   +1 more source

Evaluating the Term ‘Disorders of Sex Development’: A Multidisciplinary Debate

Social Medicine, 2018
In 2014, almost 10 years after the 2005 International Consensus Conference on Intersex in Chicago, one of the conference co-organisers, under the auspices of a number of international paediatric endocrinology societies, launched the Global DSD Update to ...
Natalie Delimata, Margaret Simmonds, Michelle O’Brien, Georgiann Davis, Richard Auchus, Karen Lin-Su   +5 more
doaj  

Embryonal carcinoma in androgen insensitivity syndrome

Indian Journal of Medical and Paediatric Oncology, 2011
Embryonal cell carcinoma is a rare clinical entity. We report a case of a 20-year-old patient who presented with lump lower abdomen for last two months with primary amenorrhea and poorly developed secondary sexual characteristics.
Debabrata Barmon, Amal Chandra Kataki, J D Sharma, Rahman Hafizur   +3 more
doaj   +1 more source

Bilateral Breast Phyllodes Tumor in Androgen Insensitivity Syndrome

The Surgery Journal, 2023
Phyllodes is a rare tumor found exclusively in females. It can be classified into benign, intermediate, or malignant variety based on the aggressive nature of the disease.
Aishwarya Sunil Dutt, Girish Bakhshi, Chandrakant Sabale, Ravi Landge, Sushrut Baligar, Rajalakshmi V., Madhu Jha, Sampada Joshi, Chettubattina Ravi Teja   +8 more
doaj   +1 more source

Psychological and family intervention with a person diagnosed with complete androgen insensitivity syndrome

Telangana Journal of Psychiatry, 2023
Complete androgen insensitivity syndrome (CAIS) is a rare condition resulting due to the inability of the cell to respond to the masculine hormone (androgen). Often, CAIS patients identify themselves as female and may experience significant psychological
Mysore Narasimha Vranda, Suresh Badamath, Marita Kadicheeni Paul, Radhakrishnan Vasanthra Cicil, Prakyath Ravindranath Hegde, Adharsa Ajayan, Hari Hara Suchendra, Tshering Lhamu   +7 more
doaj   +1 more source

Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach

Journal of International Medical Research
Objective To describe individuals with differences in sex development presenting with a female phenotype and an absent uterus and identify specific diagnostic characteristics that improve diagnostic accuracy and optimize patient care.
Ana Jibladze, Elene Asanidze, Alla Vash-Margita, Jenaro Kristesashvili   +3 more
doaj   +1 more source

Complete androgen insensitivity syndrome: A case report

Journal of Dr. NTR University of Health Sciences, 2019
Technology cannot replace clinical acumen. Think of complete androgen insensitivity syndrome (CAIS) in a female child with inguinal hernia. Diagnosis was missed in our patient when she presented with inguinal hernia the first time.
Suresh K Jariwala
doaj   +1 more source

A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant

Human Genome Variation, 2021
An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 ...
Kok-Siong Poon, Karen Mei-Ling Tan, Kah Yin Loke   +2 more
doaj   +1 more source

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source